rs1389832

Variant names:

• chr5-35858619-A-G
• rs1389832
• NM_002185.5:c.82+1560A>G

Your query was ambiguous. Multiple possible variants found:

• chr5-35858619-A-G
• chr5-35858619-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_002185.5(IL7R):​c.82+1560A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.707 in 152,084 control chromosomes in the GnomAD database, including 39,216 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.71 (39216 hom., cov: 33)
• Consequence: IL7R NM_002185.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0530

Genes affected

IL7R (HGNC:6024): (interleukin 7 receptor) The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.865 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
IL7R	NM_002185.5	c.82+1560A>G		intron_variant	Intron 1 of 7	ENST00000303115.8	NP_002176.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
IL7R	ENST00000303115.8	c.82+1560A>G		intron_variant	Intron 1 of 7	1	NM_002185.5	ENSP00000306157.3

Frequencies

GnomAD3 genomes AF: 0.708 AC: 107527 AN: 151964 Hom.: 39198 Cov.: 33

Gnomad AFR AF: 0.873

Gnomad AMI AF: 0.797

Gnomad AMR AF: 0.576

Gnomad ASJ AF: 0.638

Gnomad EAS AF: 0.419

Gnomad SAS AF: 0.510

Gnomad FIN AF: 0.735

Gnomad MID AF: 0.633

Gnomad NFE AF: 0.672

Gnomad OTH AF: 0.677

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.707 AC: 107593 AN: 152084 Hom.: 39216 Cov.: 33 AF XY: 0.702 AC XY: 52199 AN XY: 74350

Gnomad4 AFR AF: 0.872

Gnomad4 AMR AF: 0.575

Gnomad4 ASJ AF: 0.638

Gnomad4 EAS AF: 0.419

Gnomad4 SAS AF: 0.509

Gnomad4 FIN AF: 0.735

Gnomad4 NFE AF: 0.672

Gnomad4 OTH AF: 0.675

Alfa AF: 0.710 Hom.: 5396

Bravo AF: 0.706

Asia WGS AF: 0.554 AC: 1920 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	2.2
DANN	Benign	0.59

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1389832; hg19: chr5-35858721;